rs6465657

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1

The NM_014916.4(LMTK2):​c.998+17C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.476 in 1,596,282 control chromosomes in the GnomAD database, including 196,711 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: 𝑓 0.37 ( 13406 hom., cov: 33)
Exomes 𝑓: 0.49 ( 183305 hom. )

Consequence

LMTK2
NM_014916.4 intron

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.617
Variant links:
Genes affected
LMTK2 (HGNC:17880): (lemur tyrosine kinase 2) The protein encoded by this gene belongs to the protein kinase superfamily and the protein tyrosine kinase family. It contains N-terminal transmembrane helices and a long C-terminal cytoplasmic tail with serine/threonine/tyrosine kinase activity. This protein interacts with several other proteins, such as Inhibitor-2 (Inh2), protein phosphatase-1 (PP1C), p35, and myosin VI. It phosporylates other proteins, and is itself also phosporylated when interacting with cyclin-dependent kinase 5 (cdk5)/p35 complex. This protein involves in nerve growth factor (NGF)-TrkA signalling, and also plays a critical role in endosomal membrane trafficking. Mouse studies suggested an essential role of this protein in spermatogenesis. [provided by RefSeq, Oct 2009]

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ACMG classification

Classification was made for transcript

Our verdict: Benign. The variant received -12 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.83).
BA1
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.532 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
LMTK2NM_014916.4 linkc.998+17C>T intron_variant Intron 9 of 13 ENST00000297293.6 NP_055731.2 Q8IWU2
LMTK2XM_011515981.4 linkc.992+17C>T intron_variant Intron 9 of 13 XP_011514283.1

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
LMTK2ENST00000297293.6 linkc.998+17C>T intron_variant Intron 9 of 13 1 NM_014916.4 ENSP00000297293.5 Q8IWU2

Frequencies

GnomAD3 genomes
AF:
0.373
AC:
56662
AN:
152012
Hom.:
13407
Cov.:
33
show subpopulations
Gnomad AFR
AF:
0.111
Gnomad AMI
AF:
0.471
Gnomad AMR
AF:
0.352
Gnomad ASJ
AF:
0.581
Gnomad EAS
AF:
0.138
Gnomad SAS
AF:
0.232
Gnomad FIN
AF:
0.462
Gnomad MID
AF:
0.608
Gnomad NFE
AF:
0.536
Gnomad OTH
AF:
0.430
GnomAD2 exomes
AF:
0.405
AC:
96530
AN:
238114
AF XY:
0.415
show subpopulations
Gnomad AFR exome
AF:
0.101
Gnomad AMR exome
AF:
0.248
Gnomad ASJ exome
AF:
0.593
Gnomad EAS exome
AF:
0.139
Gnomad FIN exome
AF:
0.472
Gnomad NFE exome
AF:
0.545
Gnomad OTH exome
AF:
0.479
GnomAD4 exome
AF:
0.487
AC:
703442
AN:
1444152
Hom.:
183305
Cov.:
29
AF XY:
0.483
AC XY:
346528
AN XY:
717764
show subpopulations
Gnomad4 AFR exome
AF:
0.0969
AC:
3173
AN:
32742
Gnomad4 AMR exome
AF:
0.260
AC:
10721
AN:
41198
Gnomad4 ASJ exome
AF:
0.587
AC:
15020
AN:
25572
Gnomad4 EAS exome
AF:
0.120
AC:
4735
AN:
39390
Gnomad4 SAS exome
AF:
0.237
AC:
19629
AN:
82698
Gnomad4 FIN exome
AF:
0.479
AC:
25448
AN:
53154
Gnomad4 NFE exome
AF:
0.537
AC:
593007
AN:
1104024
Gnomad4 Remaining exome
AF:
0.473
AC:
28220
AN:
59680
Heterozygous variant carriers
0
13873
27746
41618
55491
69364
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Exome Het
Exome Hom
Variant carriers
0
16296
32592
48888
65184
81480
<30
30-35
35-40
40-45
45-50
50-55
55-60
60-65
65-70
70-75
75-80
>80
Age
GnomAD4 genome
AF:
0.372
AC:
56645
AN:
152130
Hom.:
13406
Cov.:
33
AF XY:
0.363
AC XY:
27013
AN XY:
74360
show subpopulations
Gnomad4 AFR
AF:
0.110
AC:
0.110447
AN:
0.110447
Gnomad4 AMR
AF:
0.351
AC:
0.351099
AN:
0.351099
Gnomad4 ASJ
AF:
0.581
AC:
0.581027
AN:
0.581027
Gnomad4 EAS
AF:
0.138
AC:
0.137645
AN:
0.137645
Gnomad4 SAS
AF:
0.232
AC:
0.231535
AN:
0.231535
Gnomad4 FIN
AF:
0.462
AC:
0.462303
AN:
0.462303
Gnomad4 NFE
AF:
0.536
AC:
0.53615
AN:
0.53615
Gnomad4 OTH
AF:
0.427
AC:
0.426945
AN:
0.426945
Heterozygous variant carriers
0
1592
3184
4777
6369
7961
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Genome Het
Genome Hom
Variant carriers
0
510
1020
1530
2040
2550
<30
30-35
35-40
40-45
45-50
50-55
55-60
60-65
65-70
70-75
75-80
>80
Age
Alfa
AF:
0.487
Hom.:
91109
Bravo
AF:
0.360
Asia WGS
AF:
0.179
AC:
623
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.83
CADD
Benign
6.8
DANN
Benign
0.74
RBP_binding_hub_radar
0.0
RBP_regulation_power_radar
1.1
Mutation Taster
=100/0
polymorphism (auto)

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.0
Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs6465657; hg19: chr7-97816327; COSMIC: COSV51990635; API